SMPDB_ID

SMP0000218

PW_ID

PW000182

图片

主题

Disease

描述

Tyrosinemia type I is caused by a defect in in gene FAH, which encodes fumarylacetoacetate hydrolase (FAH), the last enzyme in the tyrosine catabolism pathway, resulting in accumulation of succinylacetone (SA) that reacts with amino acids and proteins to form stable adducts via Schiff base formation. Symptoms of Tyrosinemia type I include failure to thrive, diarrhea, jaundice, cabbage-like odor and kidney failure.

代谢物

SMPDB ID	代谢物id	代谢物的名字
SMP0000218	PW_C002411	Homovanillin
SMP0000218	PW_C000423	Magnesium
SMP0000218	PW_C001147	Vanylglycol
SMP0000218	PW_C000764	Pyrocatechol
SMP0000218	PW_C001081	Guaiacol
SMP0000218	PW_C007226	Topaquinone
SMP0000218	PW_C003007	2-Hydroxy-3-(4-hydroxyphenyl)propenoic acid
SMP0000218	PW_C009794	Iron
SMP0000218	PW_C000074	Homovanillic acid
SMP0000218	PW_C001029	3,4-Dihydroxybenzeneacetic acid
SMP0000218	PW_C001969	3,4-Dihydroxyphenylacetaldehyde
SMP0000218	PW_C000015	3-Methoxytyramine
SMP0000218	PW_C000222	3,4-Dihydroxyphenylglycol
SMP0000218	PW_C000197	Vanillylmandelic acid
SMP0000218	PW_C040034	Hydrogen Ion
SMP0000218	PW_C001144	NADH
SMP0000218	PW_C001240	3,4-Dihydroxymandelic acid
SMP0000218	PW_C000721	NAD
SMP0000218	PW_C002041	3-Methoxy-4-hydroxyphenylglycolaldehyde
SMP0000218	PW_C002043	Metanephrine
SMP0000218	PW_C000108	Methylamine
SMP0000218	PW_C000964	FAD
SMP0000218	PW_C001783	Hydrogen peroxide
SMP0000218	PW_C000035	Ammonia
SMP0000218	PW_C002683	3,4-Dihydroxymandelaldehyde
SMP0000218	PW_C000048	Epinephrine
SMP0000218	PW_C000749	S-Adenosylhomocysteine
SMP0000218	PW_C000921	S-Adenosylmethionine
SMP0000218	PW_C000654	Normetanephrine
SMP0000218	PW_C009795	Zinc
SMP0000218	PW_C000968	5,6-Dihydroxyindole-2-carboxylic acid
SMP0000218	PW_C002045	Melanin
SMP0000218	PW_C002926	Indole-5,6-quinone
SMP0000218	PW_C002040	5,6-Dihydroxyindole
SMP0000218	PW_C001105	L-Dopachrome
SMP0000218	PW_C002044	Leucodopachrome
SMP0000218	PW_C000952	Dopaquinone
SMP0000218	PW_C001541	4a-Hydroxytetrahydrobiopterin
SMP0000218	PW_C000019	Tetrahydrobiopterin
SMP0000218	PW_C000117	L-Dopa
SMP0000218	PW_C008525	Pyrroloquinoline quinone
SMP0000218	PW_C000977	Dehydroascorbic acid
SMP0000218	PW_C000142	Norepinephrine
SMP0000218	PW_C000031	Ascorbic acid
SMP0000218	PW_C000514	Copper
SMP0000218	PW_C000052	Dopamine
SMP0000218	PW_C000146	NADPH
SMP0000218	PW_C000013	p-Hydroxyphenylacetic acid
SMP0000218	PW_C000143	NADP
SMP0000218	PW_C000088	Fumaric acid
SMP0000218	PW_C000042	Acetoacetic acid
SMP0000218	PW_C001420	Water
SMP0000218	PW_C000981	4-Fumarylacetoacetic acid
SMP0000218	PW_C001376	Maleylacetoacetic acid
SMP0000218	PW_C008133	Fe3+
SMP0000218	PW_C001316	Carbon dioxide
SMP0000218	PW_C000084	Homogentisic acid
SMP0000218	PW_C001065	Oxygen
SMP0000218	PW_C000148	Oxalacetic acid
SMP0000218	PW_C000123	L-Aspartic acid
SMP0000218	PW_C001148	Pyridoxal 5'-phosphate
SMP0000218	PW_C000095	L-Glutamic acid
SMP0000218	PW_C000558	4-Hydroxyphenylpyruvic acid
SMP0000218	PW_C000134	Oxoglutaric acid
SMP0000218	PW_C000103	L-Tyrosine
SMP0000218	PW_C000210	Tyramine
SMP0000218	PW_C000353	Calcium

蛋白质

SMPDB ID	蛋白质id	蛋白质的名字
SMP0000218	P21964	Catechol O-methyltransferase
SMP0000218	P19801	Amiloride-sensitive amine oxidase [copper-containing]
SMP0000218	P14174	Macrophage migration inhibitory factor
SMP0000218	Q93099	Homogentisate 1,2-dioxygenase
SMP0000218	P46952	3-hydroxyanthranilate 3,4-dioxygenase
SMP0000218	P07327	Alcohol dehydrogenase 1A
SMP0000218	P21397	Amine oxidase [flavin-containing] A
SMP0000218	P11086	Phenylethanolamine N-methyltransferase
SMP0000218	P40126	L-dopachrome tautomerase
SMP0000218	P09172	Dopamine beta-hydroxylase
SMP0000218	P14679	Tyrosinase
SMP0000218	P30838	Aldehyde dehydrogenase, dimeric NADP-preferring
SMP0000218	P20711	Aromatic-L-amino-acid decarboxylase
SMP0000218	P16930	Fumarylacetoacetase
SMP0000218	O43708	Maleylacetoacetate isomerase
SMP0000218	P32754	4-hydroxyphenylpyruvate dioxygenase
SMP0000218	P17174	Aspartate aminotransferase, cytoplasmic
SMP0000218	P17735	Tyrosine aminotransferase